Association between inherited thrombophilia and impaired right ventricular function in deep vein thrombosis without symptomatic pulmonary embolism

Clin Appl Thromb Hemost. 2014 Apr;20(3):270-7. doi: 10.1177/1076029612460426. Epub 2012 Sep 18.


The aim was to evaluate the right ventricular function in patients with inherited thrombophilia and deep vein thrombosis (DVT) without pulmonary embolism. A total of 38 patients with DVT without symptomatic pulmonary embolism and 30 patients with varicose veins were enrolled. Clinical data, echocardiography, and 2 thrombophilic mutations were analyzed. Factor V Leiden (FVL) polymorphism was significantly frequent in the study group (P = .007). The difference in prothrombin G20210A polymorphism between the study and control groups was at a near-significant level (P = .058). There was statistically significant decrease in tricuspid annular plane systolic excursion values in patients with FVL and prothrombin G20210A polymorphism. Combined FVL and prothrombin G20210A polymorphisms were more closely related to the decrease in this value (P = .006). Deep vein thrombosis had no additional adverse effects on right ventricle. Impaired right ventricular systolic function occurs in FVL and prothrombin G20210A polymorphisms.

Keywords: blood coagulation disorders; echocardiography; genetic testing; inherited; right; venous thromboembolism; ventricular dysfunction.

MeSH terms

  • Echocardiography
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Pulmonary Embolism / genetics
  • Pulmonary Embolism / physiopathology*
  • Risk Factors
  • Thrombophilia / genetics
  • Thrombophilia / physiopathology*
  • Venous Thrombosis / genetics
  • Venous Thrombosis / physiopathology*
  • Ventricular Function, Right

Supplementary concepts

  • Thrombophilia, hereditary